Gene: PES1

Alternate names for this Gene: NOP7|PES

Gene Summary: This gene encodes a nuclear protein that contains a breast cancer associated gene 1 (BRCA1) C-terminal interaction domain. The encoded protein interacts with BOP1 and WDR12 to form the PeBoW complex, which plays a critical role in cell proliferation via pre-rRNA processing and 60S ribosomal subunit maturation. Expression of this gene may play an important role in breast cancer proliferation and tumorigenicity. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. Pseudogenes of this gene are located on the long arm of chromosome 4 and the short arm of chromosome 9.

Gene is located in Chromosome: 22

Location in Chromosome : 22q12.2

Description of this Gene: pescadillo ribosomal biogenesis factor 1

Type of Gene: protein-coding

rs5753220 in PES1 gene and Esophageal Neoplasms PMID 20729853 2010 Genome-wide association study of esophageal squamous cell carcinoma in Chinese subjects identifies susceptibility loci at PLCE1 and C20orf54.